Canonical Allele Identifier: CA2802342

Gene: IDUA

Linked Data

• dbSNP Id: rs745630845
• ExAC: 4:997340 A / T
• gnomAD v2: 4-997340-A-T
• gnomAD v4: 4-1003552-A-T
• MyVariant Identifiers: chr4:g.997340A>T (hg19) ; chr4:g.1003552A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003552A>T , CM000666.2:g.1003552A>T	GRCh38
NC_000004.11:g.997340A>T , CM000666.1:g.997340A>T	GRCh37
NC_000004.10:g.987340A>T	NCBI36
NG_008103.1:g.21556A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1654A>T	ENSP00000247933.4:p.Thr552Ser
ENST00000514224.2:c.1654A>T MANE Select	ENSP00000425081.2:p.Thr552Ser
ENST00000652070.1:n.1710A>T
ENST00000247933.8:c.1654A>T	ENSP00000247933.4:p.Thr552Ser
ENST00000514224.1:c.1258A>T	ENSP00000425081.1:p.Thr420Ser
ENST00000514417.1:n.46A>T
ENST00000514698.5:n.1761A>T
NM_000203.4:c.1654A>T	NP_000194.2:p.Thr552Ser
NR_110313.1:n.1742A>T
XM_006713882.2:c.1258A>T	XP_006713945.1:p.Thr420Ser
XM_011513459.1:c.1720A>T	XP_011511761.1:p.Thr574Ser
XM_011513460.1:c.1513A>T	XP_011511762.1:p.Thr505Ser
XM_011513461.1:c.1447A>T	XP_011511763.1:p.Thr483Ser
XM_011513462.1:c.1366A>T	XP_011511764.1:p.Thr456Ser
XM_011513463.1:c.1366A>T	XP_011511765.1:p.Thr456Ser
XR_924947.1:n.1910A>T
NM_000203.5:c.1654A>T MANE Select	NP_000194.2:p.Thr552Ser
NM_001363576.1:c.1258A>T	NP_001350505.1:p.Thr420Ser
XM_011513461.2:c.1447A>T	XP_011511763.1:p.Thr483Ser
XM_017008163.1:c.694A>T	XP_016863652.1:p.Thr232Ser